Comprehensive Review of Familial Dyslipidemias - Type II Hypercholesterolemia: A Q&A Approach

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Question: What type of dyslipidemia is discussed in the text?
Answer: Familial dyslipidemias - Type II HypercholesterolemiaQuestion: What is the mode of inheritance for Type II Hypercholesterolemia?
Answer: The mode of inheritance is autosomal dominant (AD).Question: What is the pathogenesis of Type II Hypercholesterolemia?
Answer: The pathogenesis is either due to absent or defective LDL receptors or defective apo B100.Question: What are the increased blood levels in Type IIa Hypercholesterolemia?
Answer: The increased blood levels are LDL and cholesterol.Question: What are the increased blood levels in Type IIb Hypercholesterolemia?
Answer: The increased blood levels are LDL, cholesterol, and VLDL.Question: What is the clinical manifestation of heterozygotes with Type II Hypercholesterolemia?
Answer: Heterozygotes with Type II Hypercholesterolemia (1:500) have cholesterol levels approximately 300 mg/dL.Question: What is the clinical manifestation of homozygotes with Type II Hypercholesterolemia?
Answer: Homozygotes with Type II Hypercholesterolemia (very rare) have cholesterol levels ≥ 700 mg/dL.Question: What is the clinical manifestation of Type II Hypercholesterolemia?
Answer: The clinical manifestation of Type II Hypercholesterolemia includes accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, and corneal arcus. Question: Is Type II Hypercholesterolemia a common condition?
Answer: It is not specified in the text how common Type II Hypercholesterolemia is.Question: What is the significance of cholesterol levels in Type II Hypercholesterolemia?
Answer: Cholesterol levels are elevated in both heterozygotes and homozygotes with Type II Hypercholesterolemia and play a role in the clinical manifestation of the condition.Question: What is the relationship between Type II Hypercholesterolemia and atherosclerosis?
Answer: Type II Hypercholesterolemia is associated with accelerated atherosclerosis.Question: What is the relationship between Type II Hypercholesterolemia and tendon xanthomas?
Answer: Tendon xanthomas is a clinical manifestation of Type II Hypercholesterolemia.Question: What is the relationship between Type II Hypercholesterolemia and corneal arcus?
Answer: Corneal arcus is a clinical manifestation of Type II Hypercholesterolemia. Question: Is it common for people with Type II Hypercholesterolemia to have a heart attack before age 20?
Answer: It is mentioned that people with Type II Hypercholesterolemia may have a heart attack before age 20 due to accelerated atherosclerosis.Question: What is the Achilles tendon xanthoma?
Answer: Achilles tendon xanthoma is a type of xanthoma that occurs in the Achilles tendon and is a clinical manifestation of Type II Hypercholesterolemia.Question: What is corneal arcus?
Answer: Corneal arcus is a grey or white ring around the outer part of the cornea and is a clinical manifestation of Type II Hypercholesterolemia.Question: What is a MI?
Answer: MI stands for myocardial infarction, also known as a heart attack.Question: What is a xanthoma?
Answer: A xanthoma is a yellowish lump under the skin that is caused by the accumulation of fat.Question: What is apo B100?
Answer: Apo B100 is a protein that is involved in the transport of lipids (fats) in the blood. Defective apo B100 is one of the causes of Type II Hypercholesterolemia.tab